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Split gene origin and periodic introns.

D Elder1

  • 1School of Pharmacy, University of South Australia, North Terrace, Adelaide, SA, 5000, Australia.

Journal of Theoretical Biology
|November 30, 2000
PubMed
Summary
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Many gene introns, initially thought to be random, show periodic patterns linked to ancestral gene structures. Shared patterns across related genes support the ancient origin of these introns, even in cases like myosin heavy chain.

Area of Science:

  • Molecular Biology
  • Genomics
  • Evolutionary Biology

Background:

  • The introns-early hypothesis suggests introns are ancient, predating gene structure evolution.
  • Several genes, including triose phosphate isomerase (TPI), aldolase, pyruvate kinase (PK), alcohol dehydrogenase (ADH), glyceraldehyde-3-phosphate dehydrogenase (GAPDH), and myosin heavy chain, challenge this view with seemingly non-ancient introns.
  • Some introns in these genes do align with ancient phylogenetic origins or protein modules.

Purpose of the Study:

  • To re-evaluate the nature and origin of introns in genes previously cited as counterexamples to the introns-early hypothesis.
  • To investigate whether anomalous intron patterns represent relics of internal sequence repetitions within ancestral genes.
  • To explore shared intron patterns across related genes as evidence for their phylogenetic antiquity.

Related Experiment Videos

Main Methods:

  • Comparative analysis of intron positions and sequences across multiple genes.
  • Examination of exon-intron structures in relation to protein modularity.
  • Analysis of intron periodicity and translational phase coherence.

Main Results:

  • A significant number of previously anomalous introns are identified as periodic, suggesting they are remnants of internal sequence repetitions in ancestral genes.
  • Shared periodic intron patterns are observed in related genes, such as alpha/beta-barrels (TPI, aldolase, PK) and Rossmann nucleotide-binding domains (PK, ADH, GAPDH).
  • Myosin heavy chain introns, despite not showing clear periodic placement, exhibit coherent translational phases, indicating a possible obscured periodic arrangement.

Conclusions:

  • The study provides evidence that many 'anomalous' introns are actually periodic, supporting their ancient origin and the introns-early view.
  • Shared intron patterns across gene families strengthen the argument for the phylogenetic significance of intron positions.
  • Intron slipping may explain the apparent lack of periodicity in some genes, such as myosin heavy chain, while preserving other evidence of ancient organization.